Abstract
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7+/-3.1 years (mean+/-SD), and loss of ambulance occurred at 38.5+/-2.1 years. Muscle atrophy was predominant in the pelvic and shoulder girdles, and proximal limb muscles. Muscle pathology revealed dystrophic changes. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene was identified, and a frameshift mutation (1796insA) was found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca2+-binding domain.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Age of Onset
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Biopsy
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Calpain / genetics*
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Child
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DNA Mutational Analysis
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Exons
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Family Health*
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Female
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Haplotypes
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Humans
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Isoenzymes / genetics*
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Japan
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Male
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Microscopy, Electron
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Middle Aged
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Muscle Fibers, Skeletal / chemistry
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Muscle Fibers, Skeletal / pathology
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Muscle Fibers, Skeletal / ultrastructure
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Muscle Proteins / analysis
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / enzymology*
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Muscle, Skeletal / pathology
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Muscular Dystrophies / genetics*
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Muscular Dystrophies / metabolism
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Muscular Dystrophies / pathology*
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Mutation
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Pedigree
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Reverse Transcriptase Polymerase Chain Reaction
Substances
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Isoenzymes
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Muscle Proteins
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CAPN3 protein, human
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Calpain